Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut GLIPR1L1 256710 broad.mit.edu 37 12 75741494 75741494 + Silent SNP C C T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr12:75741494C>T ENST00000312442.2 + 3 559 c.513C>T c.(511-513)taC>taT p.Y171Y GLIPR1L1_ENST00000378695.4_Silent_p.Y171Y|CAPS2_ENST00000442339.2_Intron NM_152779.2 NP_689992.1 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 171 extracellular region endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 TATGCAACTACGGACCTGCGT 0.358000 4 169 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69795658 69795658 + Missense_Mutation SNP T T G TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr4:69795658T>G ENST00000251566.4 - 6 1487 c.1457A>C c.(1456-1458)cAc>cCc p.H486P UGT2A3_ENST00000420231.2_Missense_Mutation_p.H197P NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 486 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TATAGAGTAGTGCTGGAACCA 0.453000 9 117 0 0 1 0 0 SLC20A1 6574 broad.mit.edu 37 2 113418740 113418740 + Silent SNP A A G TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr2:113418740A>G ENST00000272542.3 + 10 2354 c.1815A>G c.(1813-1815)gcA>gcG p.A605A NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 605 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 TTGAACTGGCATCTGCCCTCA 0.403000 11 79 0 0 1 0 0 ZBTB34 403341 broad.mit.edu 37 9 129642336 129642336 + Missense_Mutation SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr9:129642336G>A ENST00000319119.4 + 2 743 c.658G>A c.(658-660)Gag>Aag p.E220K ZBTB34_ENST00000373452.2_Missense_Mutation_p.E216K NM_001099270.1 NP_001092740.1 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 GATTCAGATAGAGGGAGACCA 0.577000 8 61 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103216050 103216050 + Silent SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr7:103216050G>A ENST00000428762.1 - 29 4407 c.4248C>T c.(4246-4248)tgC>tgT p.C1416C RELN_ENST00000343529.5_Silent_p.C1416C|RELN_ENST00000424685.2_Silent_p.C1416C NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1416 EGF-like 3. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CATGGCCACTGCAGTAACTGG 0.463000 4 96 0 0 1 0 0 INTS7 25896 broad.mit.edu 37 1 212118272 212118272 + Missense_Mutation SNP T T A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr1:212118272T>A ENST00000366994.3 - 19 2559 c.2455A>T c.(2455-2457)Att>Ttt p.I819F INTS7_ENST00000366993.3_Missense_Mutation_p.I805F|INTS7_ENST00000440600.2_Missense_Mutation_p.I770F|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.I799F NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 819 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) TGGACAGCAATGGGCTCTGCA 0.507000 10 96 0 0 1 0 0 RRAD 6236 broad.mit.edu 37 16 66956055 66956055 + Missense_Mutation SNP C C T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr16:66956055C>T ENST00000299759.6 - 5 1101 c.851G>A c.(850-852)cGc>cAc p.R284H RRAD_ENST00000420652.1_Missense_Mutation_p.R284H P55042 RAD_HUMAN Ras-related associated with diabetes 284 Calmodulin-binding. small GTPase mediated signal transduction plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) AGCTACGATGCGGCCCAAGAA 0.612000 4 53 0 0 1 0 0 UBA2 10054 broad.mit.edu 37 19 34957913 34957913 + Missense_Mutation SNP T T A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr19:34957913T>A ENST00000439527.2 + 16 1945 c.1447T>A c.(1447-1449)Tcc>Acc p.S483T UBA2_ENST00000246548.4_Missense_Mutation_p.S579T|UBA2_ENST00000592791.1_Missense_Mutation_p.S105T Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 579 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GCCCTCCACCTCCACAGGTGA 0.463000 3 27 0 0 1 0 0 THPO 7066 broad.mit.edu 37 3 184093747 184093747 + Missense_Mutation SNP C C T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr3:184093747C>T ENST00000204615.7 - 3 284 c.70G>A c.(70-72)Gct>Act p.A24T THPO_ENST00000421442.2_Missense_Mutation_p.A24T|THPO_ENST00000445696.2_Missense_Mutation_p.A24T|EIF2B5_ENST00000444495.1_Intron NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin 24 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCAGGAGGAGCCGGGCTGGAC 0.507000 4 74 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457474 110457474 + Missense_Mutation SNP G G C TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr8:110457474G>C ENST00000378402.5 + 38 5480 c.5376G>C c.(5374-5376)gaG>gaC p.E1792D NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1792 IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GAGCAATAGAGGTTAATGAAA 0.423000 HNSCC(38;0.096) 9 90 0 0 1 0 0 ZNF311 282890 broad.mit.edu 37 6 28963010 28963010 + Missense_Mutation SNP G G A rs75164486 byFrequency TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr6:28963010G>A ENST00000377179.3 - 7 2281 c.1769C>T c.(1768-1770)aCg>aTg p.T590M ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 590 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 ACGGAAGGACGTGCCACACTC 0.488000 9 110 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846632 55846632 + Missense_Mutation SNP T T C TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr12:55846632T>C ENST00000322678.1 + 1 635 c.635T>C c.(634-636)gTg>gCg p.V212A RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 CTAGTTTGTGTGATTCTGTCC 0.408000 44 178 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44737090 44737090 + Missense_Mutation SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr7:44737090G>A ENST00000222673.5 + 16 2215 c.2173G>A c.(2173-2175)Gtg>Atg p.V725M OGDH_ENST00000447398.1_Missense_Mutation_p.V736M|OGDH_ENST00000439616.2_Missense_Mutation_p.V575M|OGDH_ENST00000449767.1_Missense_Mutation_p.V721M|OGDH_ENST00000543843.1_Missense_Mutation_p.V676M|OGDH_ENST00000444676.1_Missense_Mutation_p.V740M NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 725 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TGAGTACGGCGTGCTGGGTGA 0.592000 26 64 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109692929 109692929 + Missense_Mutation SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr9:109692929G>A ENST00000277225.5 + 4 6260 c.5971G>A c.(5971-5973)Gtc>Atc p.V1991I ZNF462_ENST00000441147.2_Missense_Mutation_p.V836I|ZNF462_ENST00000457913.1_Missense_Mutation_p.V1991I|ZNF462_ENST00000497489.1_3'UTR Q96JM2 ZN462_HUMAN zinc finger protein 462 1991 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CCGAAAGCACGTCCAGTATGG 0.498000 4 67 0 0 1 0 0 STC1 6781 broad.mit.edu 37 8 23702537 23702537 + Missense_Mutation SNP C C A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr8:23702537C>A ENST00000290271.2 - 4 773 c.490G>T c.(490-492)Gtc>Ttc p.V164F STC1_ENST00000524323.1_Missense_Mutation_p.V95F NM_003155.2 NP_003146.1 P52823 STC1_HUMAN stanniocalcin 1 164 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity p.V164L(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) AGGCTTCGGACAAGTCTGTTA 0.522000 7 111 5.18039e-06 5.33055e-06 1 1 0 OR10H1 26539 broad.mit.edu 37 19 15918425 15918425 + Silent SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr19:15918425G>A ENST00000334920.2 - 1 511 c.423C>T c.(421-423)tgC>tgT p.C141C NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 CCAGGCAGGCGCAGCCCCGCG 0.647000 10 94 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51824709 51824709 + Missense_Mutation SNP A A T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr6:51824709A>T ENST00000371117.3 - 36 6142 c.5867T>A c.(5866-5868)cTg>cAg p.L1956Q PKHD1_ENST00000340994.4_Missense_Mutation_p.L1956Q NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1956 G8 1. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GTTAGTGTCCAGCAGAAGCAA 0.458000 OREG0017492 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 183 0 0 1 0 0 CLCA1 1179 broad.mit.edu 37 1 86959231 86959231 + Silent SNP A A T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr1:86959231A>T ENST00000234701.3 + 11 1980 c.1629A>T c.(1627-1629)gtA>gtT p.V543V CLCA1_ENST00000394711.1_Silent_p.V543V A8K7I4 CLCA1_HUMAN chloride channel accessory 1 543 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GTGGCTTTGTAGTGGACAAAA 0.443000 16 23 0 0 1 0 0 NECAP2 55707 broad.mit.edu 37 1 16767279 16767279 + Missense_Mutation SNP C C G TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr1:16767279C>G ENST00000337132.5 + 1 113 c.23C>G c.(22-24)tCg>tGg p.S8W NECAP2_ENST00000443980.2_Missense_Mutation_p.S8W|NECAP2_ENST00000457722.2_Intron|NECAP2_ENST00000406746.1_Missense_Mutation_p.S8W|NECAP2_ENST00000504551.2_Missense_Mutation_p.S8W|NECAP2_ENST00000486390.1_3'UTR NM_001145278.1|NM_018090.4 NP_001138750.1|NP_060560.1 Q9NVZ3 NECP2_HUMAN NECAP endocytosis associated 2 8 endocytosis|protein transport clathrin vesicle coat|coated pit|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649) GGGTACGAGTCGGTGCTCTGT 0.652000 OREG0013136 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 33 0 0 1 0 0 OR9G1 390174 broad.mit.edu 37 11 56468348 56468348 + Missense_Mutation SNP C C T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr11:56468348C>T ENST00000312153.1 + 1 485 c.485C>T c.(484-486)aCg>aTg p.T162M NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 ACCAAGAAAACGTTTTCCTTT 0.448000 5 156 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238050813 238050813 + Missense_Mutation SNP C C T rs141095443 byFrequency TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr1:238050813C>T ENST00000366570.4 - 5 760 c.602G>A c.(601-603)cGg>cAg p.R201Q RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 201 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GGTCACGTTCCGAGACACAGC 0.532000 21 77 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42718951 42718951 + Missense_Mutation SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr5:42718951G>A ENST00000230882.4 + 10 1532 c.1342G>A c.(1342-1344)Gtt>Att p.V448I GHR_ENST00000537449.1_Missense_Mutation_p.V261I|GHR_ENST00000357703.3_Missense_Mutation_p.V426I NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 448 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GCAGCCCAGTGTTATCCAAGC 0.448000 22 66 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42005362 42005362 + Missense_Mutation SNP C C T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr15:42005362C>T ENST00000219905.7 + 9 3279 c.3098C>T c.(3097-3099)aCt>aTt p.T1033I MGA_ENST00000570161.1_Missense_Mutation_p.T1033I|MGA_ENST00000545763.1_Missense_Mutation_p.T1033I|MGA_ENST00000389936.4_Missense_Mutation_p.T1033I|MGA_ENST00000566586.1_Missense_Mutation_p.T1033I NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1033 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TCCCTCAAAACTAAACCTATC 0.448000 27 122 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57564168 57564168 + Silent SNP T T C TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr11:57564168T>C ENST00000524630.1 + 6 1173 c.660T>C c.(658-660)ggT>ggC p.G220G CTNND1_ENST00000526357.1_Silent_p.G166G|CTNND1_ENST00000399039.4_Silent_p.G220G|CTNND1_ENST00000530094.1_Silent_p.G119G|CTNND1_ENST00000428599.2_Silent_p.G220G|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532463.1_Silent_p.G119G|CTNND1_ENST00000526938.1_Silent_p.G220G|CTNND1_ENST00000534579.1_Silent_p.G166G|CTNND1_ENST00000415361.2_Silent_p.G119G|CTNND1_ENST00000361391.6_Silent_p.G220G|CTNND1_ENST00000361332.4_Silent_p.G220G|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000532245.1_Silent_p.G119G|CTNND1_ENST00000528232.1_Silent_p.G119G|CTNND1_ENST00000426142.2_Silent_p.G119G|CTNND1_ENST00000361796.4_Silent_p.G220G|CTNND1_ENST00000529986.1_Silent_p.G119G|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000360682.6_Silent_p.G220G|CTNND1_ENST00000358694.6_Silent_p.G220G|CTNND1_ENST00000529873.1_Silent_p.G166G|CTNND1_ENST00000399050.4_Silent_p.G220G|CTNND1_ENST00000532787.1_Silent_p.G119G|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000529526.1_Silent_p.G166G|CTNND1_ENST00000530748.1_Silent_p.G166G|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532649.1_Silent_p.G166G|CTNND1_ENST00000532844.1_Silent_p.G166G|CTNND1_ENST00000528621.1_Silent_p.G166G|CTNND1_ENST00000529919.1_Silent_p.G220G O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 220 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) ATGAAGATGGTTATCCAGGTG 0.562000 33 109 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16038092 16038092 + Missense_Mutation SNP G G A rs145564844 byFrequency TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr19:16038092G>A ENST00000326742.7 - 4 456 c.455C>T c.(454-456)aCg>aTg p.T152M CYP4F11_ENST00000402119.3_Missense_Mutation_p.T152M|CYP4F11_ENST00000248041.7_Missense_Mutation_p.T152M Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 152 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GAAGGCAGGCGTCAACATCCG 0.552000 15 133 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48602392 48602392 + Missense_Mutation SNP T T C TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr3:48602392T>C ENST00000328333.8 - 117 8749 c.8642A>G c.(8641-8643)gAt>gGt p.D2881G COL7A1_ENST00000470076.1_5'UTR|COL7A1_ENST00000454817.1_Missense_Mutation_p.D2849G NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2881 BPTI/Kunitz inhibitor.|Nonhelical region (NC2). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGAGCCCTCATCCAGTGGCAG 0.612000 4 81 0 0 1 0 0 B9D1 27077 broad.mit.edu 37 17 19251097 19251097 + Splice_Site SNP C C T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr17:19251097C>T ENST00000477478.2 - 4 601 c.268_splice c.e4+1 p.G90_splice B9D1_ENST00000268841.6_Splice_Site_p.R114_splice|B9D1_ENST00000575403.1_Splice_Site_p.G90_splice|B9D1_ENST00000461069.2_Splice_Site_p.R114_splice|B9D1_ENST00000395616.3_Splice_Site_p.R114_splice|B9D1_ENST00000395615.1_Splice_Site_p.R114_splice|B9D1_ENST00000261499.4_Splice_Site_p.R114_splice Q9UPM9 B9D1_HUMAN B9 protein domain 1 0 B9. cilium assembly centrosome|microtubule basal body protein binding large_intestine(3)|urinary_tract(1) 4 all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143) GAGGACCTACCGGCCAGGTGA 0.587000 8 32 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 45 70 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117106023 117106023 + Missense_Mutation SNP C C G TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr9:117106023C>G ENST00000307564.4 - 19 3883 c.3722G>C c.(3721-3723)tGt>tCt p.C1241S AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.C1160S|AKNA_ENST00000374079.4_Missense_Mutation_p.C186S|AKNA_ENST00000374088.3_Missense_Mutation_p.C1241S|AKNA_ENST00000223791.3_Missense_Mutation_p.C701S NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1241 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 GCAGTGGGGACAGGAGACTGT 0.587000 6 57 0 0 1 0 0 MDH1B 130752 broad.mit.edu 37 2 207621661 207621661 + Missense_Mutation SNP A A G TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr2:207621661A>G ENST00000374412.3 - 4 649 c.374T>C c.(373-375)cTg>cCg p.L125P MDH1B_ENST00000392214.2_Missense_Mutation_p.L125P|MDH1B_ENST00000454776.2_Missense_Mutation_p.L125P|MDH1B_ENST00000449792.1_Missense_Mutation_p.L27P NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 125 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) GCAAGTTTTCAGGGCTTCTTC 0.428000 16 89 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62045570 62045570 + Nonsense_Mutation SNP C C T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr17:62045570C>T ENST00000578147.1 - 6 925 c.849G>A c.(847-849)tgG>tgA p.W283* SCN4A_ENST00000435607.1_Nonsense_Mutation_p.W283* P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 283 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) ACGGCGGGGGCCAGCGCACAC 0.547000 6 140 0 0 1 0 0 EIF4A1 1973 broad.mit.edu 37 17 7476160 7476160 + Translation_Start_Site SNP A A C TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr17:7476160A>C ENST00000293831.8 + 1 17 c.1A>C c.(1-3)Atg>Ctg p.M1L EIF4A1_ENST00000582746.1_Start_Codon_SNP_p.M1L|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Start_Codon_SNP_p.M1L|EIF4A1_ENST00000380512.5_5'UTR NM_001416.3 NP_001407.1 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A1 1 nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 22 TCTAAGGATCATGTCTGCGAG 0.627000 29 211 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 47 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104066385 104066385 + Missense_Mutation SNP T T C TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr4:104066385T>C ENST00000265148.3 - 32 4768 c.4679A>G c.(4678-4680)aAg>aGg p.K1560R CENPE_ENST00000380026.3_Missense_Mutation_p.K1535R NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1560 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TGCTGAATCCTTGGCTTTGCG 0.333000 20 78 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142281276 142281276 + Missense_Mutation SNP T T C TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr3:142281276T>C ENST00000350721.4 - 4 1089 c.968A>G c.(967-969)gAa>gGa p.E323G ATR_ENST00000383101.3_Missense_Mutation_p.E323G NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 323 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 ACAGAGTTTTTCCAGCAGCAT 0.368000 Other conserved DNA damage response genes 12 114 0 0 1 0 0 FCN3 8547 broad.mit.edu 37 1 27697141 27697141 + Missense_Mutation SNP C C T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr1:27697141C>T ENST00000270879.4 - 7 609 c.604G>A c.(604-606)Ggt>Agt p.G202S FCN3_ENST00000354982.2_Missense_Mutation_p.G191S NM_003665.2 NP_003656.2 O75636 FCN3_HUMAN ficolin (collagen/fibrinogen domain containing) 3 202 Fibrinogen C-terminal. complement activation, lectin pathway|signal transduction collagen|extracellular space receptor binding|sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 7 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TCTACCTCACCGAGGAGGCGG 0.577000 5 100 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74477594 74477594 + Missense_Mutation SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr2:74477594G>A ENST00000394019.2 - 17 1926 c.1529C>T c.(1528-1530)cCa>cTa p.P510L SLC4A5_ENST00000359484.4_Missense_Mutation_p.P446L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.P510L|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.P446L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P510L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P510L|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P510L|SLC4A5_ENST00000377634.4_Missense_Mutation_p.P510L NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 510 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GAAGTCACTTGGGAACCAGGG 0.527000 OREG0014716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 166 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43415432 43415432 + Missense_Mutation SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr6:43415432G>A ENST00000244533.3 + 16 3991 c.3632G>A c.(3631-3633)gGc>gAc p.G1211D ABCC10_ENST00000372530.4_Missense_Mutation_p.G1239D NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1239 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CTGGGCACCGGCTGGCTGACC 0.632000 6 357 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56440939 56440939 + Missense_Mutation SNP C C T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr17:56440939C>T ENST00000584437.1 - 3 2353 c.398G>A c.(397-399)gGa>gAa p.G133E BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.G133E|RNF43_ENST00000581868.1_Missense_Mutation_p.G6E|RNF43_ENST00000500597.2_Missense_Mutation_p.G92E|RNF43_ENST00000577625.1_Missense_Mutation_p.G6E|RNF43_ENST00000583753.1_Missense_Mutation_p.G92E|RNF43_ENST00000577716.1_Missense_Mutation_p.G133E Q68DV7 RNF43_HUMAN ring finger protein 43 133 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGCACTGGCTCCTCGCTCACC 0.612000 6 133 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75498581 75498581 + Silent SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr15:75498581G>A ENST00000360639.2 + 2 512 c.192G>A c.(190-192)gcG>gcA p.A64A C15orf39_ENST00000394987.4_Silent_p.A64A|C15orf39_ENST00000567617.1_Silent_p.A64A Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 64 p.A64A(1) autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 AGCAGTTGGCGTCCTGGACCC 0.597000 7 33 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100208068 100208068 + Silent SNP T T C TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr4:100208068T>C ENST00000209668.2 - 3 311 c.198A>G c.(196-198)ttA>ttG p.L66L RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 66 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) CCTCATGGCCTAAAATCACAG 0.498000 4 220 0 0 1 0 0 CYP2D6 1565 broad.mit.edu 37 22 42523567 42523567 + Missense_Mutation SNP T T C rs61736517 TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr22:42523567T>C ENST00000360608.5 - 7 1169 c.1055A>G c.(1054-1056)cAc>cGc p.H352R NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R|CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R NM_000106.5 NP_000097.3 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 352 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTAGGGCATGTGAGCCTGGTC 0.592000 6 52 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69403357 69403357 + Nonsense_Mutation SNP T T A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr4:69403357T>A ENST00000317746.2 - 6 1621 c.1579A>T c.(1579-1581)Aag>Tag p.K527* NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 527 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 TCCCTTTTCTTCTTCTTTCCT 0.408000 34 77 0 0 1 0 0 MIER2 54531 broad.mit.edu 37 19 307470 307470 + Missense_Mutation SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr19:307470G>A ENST00000264819.4 - 13 1275 c.1265C>T c.(1264-1266)cCg>cTg p.P422L NM_017550.1 NP_060020.1 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family member 2 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.P422L(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCGAGGACGGGAGTCCATC 0.662000 4 11 0 0 1 0 0 CCDC41 51134 broad.mit.edu 37 12 94805603 94805603 + Missense_Mutation SNP T T A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr12:94805603T>A ENST00000397809.5 - 4 743 c.194A>T c.(193-195)aAg>aTg p.K65M CCDC41_ENST00000397807.2_Missense_Mutation_p.K32M|CCDC41_ENST00000547575.1_Missense_Mutation_p.K65M|CCDC41_ENST00000339839.5_Missense_Mutation_p.K65M NM_016122.2 NP_057206.2 Q9Y592 CCD41_HUMAN coiled-coil domain containing 41 57 breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2) 27 ATTTTGTAACTTTACATGTTC 0.318000 13 96 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59798010 59798010 + Silent SNP C C A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr14:59798010C>A ENST00000395125.1 + 13 1667 c.1644C>A c.(1642-1644)ctC>ctA p.L548L DAAM1_ENST00000351081.1_Silent_p.L548L|DAAM1_ENST00000360909.3_Silent_p.L548L NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 548 FH1.|Pro-rich. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CTGGATCTCTCCTTCCTCCCC 0.637000 39 43 3.54909e-21 3.76098e-21 1 1 0 CAPZA3 93661 broad.mit.edu 37 12 18891211 18891211 + Silent SNP T T A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr12:18891211T>A ENST00000317658.3 + 1 167 c.9T>A c.(7-9)ctT>ctA p.L3L NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 3 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) ACATGACACTTAGCGTGCTGA 0.443000 22 89 0 0 1 0 0 TNFSF14 0 broad.mit.edu 37 19 6665024 6665024 + Silent SNP C C T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr19:6665024C>T ENST00000326176.9 - 5 909 c.528G>A c.(526-528)ggG>ggA p.G176G TNFSF14_ENST00000599359.1_Silent_p.G212G|TNFSF14_ENST00000245912.3_Silent_p.G176G NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 212 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 CCACCTTCTCCCCAGCCTCCA 0.627000 6 85 0 0 1 0 0 MYO1C 4641 broad.mit.edu 37 17 1384090 1384090 + Silent SNP G G T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr17:1384090G>T ENST00000359786.5 - 6 1041 c.717C>A c.(715-717)atC>atA p.I239I MYO1C_ENST00000545534.2_Silent_p.I215I|MYO1C_ENST00000438665.2_Silent_p.I220I|MYO1C_ENST00000575158.1_Silent_p.I204I|MYO1C_ENST00000361007.2_Silent_p.I204I|MYO1C_ENST00000573198.1_5'UTR NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 239 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GCTGGTAGAAGATGTGGAAGT 0.607000 29 79 2.65835e-16 2.77563e-16 1 1 0 TTF1 7270 broad.mit.edu 37 9 135251350 135251350 + Silent SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr9:135251350G>A ENST00000334270.2 - 11 2709 c.2670C>T c.(2668-2670)caC>caT p.H890H TTF1_ENST00000461970.1_5'UTR NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 890 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) aattacaggcgtgagccatgc 0.493000 4 50 0 0 1 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145273385 145273385 + Missense_Mutation SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr1:145273385G>A ENST00000369340.3 + 4 683 c.239G>A c.(238-240)gGc>gAc p.G80D RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D Q7Z3S9 NT2NL_HUMAN notch 2 N-terminal like 80 EGF-like 3. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding p.G80D(2) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 CTGAATGGCGGCACATGCCAT 0.532000 6 386 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1791999 1791999 + Missense_Mutation SNP C C G TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr19:1791999C>G ENST00000539485.1 - 19 2424 c.2191G>C c.(2191-2193)Gtg>Ctg p.V731L ATP8B3_ENST00000310127.6_Splice_Site|ATP8B3_ENST00000525591.1_Missense_Mutation_p.V684L O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 730 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCGTTGTACACCTGTTGCAGG 0.687000 5 7 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195605334 195605334 + Missense_Mutation SNP G G A rs141404332 by1000genomes TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr3:195605334G>A ENST00000333602.6 - 8 1761 c.1144C>T c.(1144-1146)Cgg>Tgg p.R382W TNK2_ENST00000381916.2_Missense_Mutation_p.R445W|TNK2_ENST00000392400.1_Missense_Mutation_p.R382W|TNK2_ENST00000428187.1_Missense_Mutation_p.R414W|TNK2_ENST00000316664.3_Missense_Mutation_p.R382W NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 382 Protein kinase. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.R445W(2) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) AGGAAGTCCCGCAGGGCCACA 0.652000 4 117 0 0 1 0 0 DIRC2 84925 broad.mit.edu 37 3 122578991 122578991 + Silent SNP A A G TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr3:122578991A>G ENST00000261038.5 + 7 1478 c.1080A>G c.(1078-1080)tcA>tcG p.S360S NM_032839.2 NP_116228.1 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 360 transport integral to membrane endometrium(2)|large_intestine(1)|lung(14)|prostate(1) 18 GBM - Glioblastoma multiforme(114;0.0614) CTACACTGTCATCCACGTGGT 0.378000 41 85 0 0 1 0 0 PDE7A 5150 broad.mit.edu 37 8 66695041 66695041 + Missense_Mutation SNP G G A rs61736484 byFrequency TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr8:66695041G>A ENST00000401827.3 - 2 619 c.176C>T c.(175-177)aCt>aTt p.T59I PDE7A_ENST00000379419.4_Missense_Mutation_p.T33I|PDE7A_ENST00000396642.3_Missense_Mutation_p.T59I NM_001242318.2 NP_001229247.1 Q13946 PDE7A_HUMAN phosphodiesterase 7A 59 cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1) 10 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) GTATAATGCAGTCTGATCAGA 0.289000 5 40 0 0 1 0 0 SLC35A3 23443 broad.mit.edu 37 1 100480866 100480866 + Missense_Mutation SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr1:100480866G>A ENST00000370155.3 + 6 1035 c.643G>A c.(643-645)Gga>Aga p.G215R SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Missense_Mutation_p.G215R|SLC35A3_ENST00000370153.1_Missense_Mutation_p.G257R|SLC35A3_ENST00000465289.1_Intron NM_012243.1 NP_036375.1 Q9Y2D2 S35A3_HUMAN solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 215 UDP-N-acetylglucosamine metabolic process Golgi membrane|integral to membrane sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 11 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199) AGGTTTCTTTGGAAGTATATT 0.303000 25 22 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48852241 48852241 + Missense_Mutation SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr8:48852241G>A ENST00000314191.2 - 11 1039 c.983C>T c.(982-984)gCg>gTg p.A328V PRKDC_ENST00000338368.3_Missense_Mutation_p.A328V|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 328 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGCATTTTTCGCCACCATATT 0.294000 Non-homologous end-joining 10 50 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201010635 201010635 + Silent SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr1:201010635G>A ENST00000362061.3 - 41 5357 c.5131C>T c.(5131-5133)Ctg>Ttg p.L1711L RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Silent_p.L1692L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1711 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GACTGACCCAGGACCCTGCAG 0.557000 9 31 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238280668 238280668 + Missense_Mutation SNP C C T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr2:238280668C>T ENST00000295550.4 - 9 4444 c.3992G>A c.(3991-3993)cGc>cAc p.R1331H COL6A3_ENST00000409809.1_Missense_Mutation_p.R1125H|COL6A3_ENST00000392003.2_Missense_Mutation_p.R924H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1125H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1130H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1131H|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1125H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R724H NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1331 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTCTTCAATGCGGCTCCCCAG 0.632000 11 46 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78426109 78426111 + In_Frame_Del DEL AGG AGG - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr1:78426109_78426111delAGG ENST00000370767.1 - 15 1501_1503 c.1414_1416delCCT c.(1414-1416)del p.P472del FUBP1_ENST00000370768.2_In_Frame_Del_p.P472del|FUBP1_ENST00000436586.2_In_Frame_Del_p.P493del Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 472 Pro-rich. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 CTGGAGGCCCAGGAGGTCCATGG 0.542 """F, N""" oligodendroglioma 12 9 --- --- --- --- FUBP1 8880 broad.mit.edu 37 1 78430386 78430386 + Frame_Shift_Del DEL A A - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr1:78430386delA ENST00000370767.1 - 10 869 c.782delT c.(781-783)tcfs p.F261fs FUBP1_ENST00000370768.2_Frame_Shift_Del_p.F261fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.F282fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 261 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 AACTTCTCTGAAACCGCCTTG 0.348 """F, N""" oligodendroglioma 17 108 --- --- --- --- NTRK1 4914 broad.mit.edu 37 1 156844179 156844181 + In_Frame_Del DEL CTT CTT - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr1:156844179_156844181delCTT ENST00000524377.1 + 9 1223_1225 c.1182_1184delCTT c.(1180-1185)tcc>tc p.SF394del NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000368196.3_Intron|NTRK1_ENST00000358660.3_Intron NM_002529.3 NP_002520.2 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 394 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CTGCAGTCTCCTTCTCGCCGGTG 0.601 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 12 195 --- --- --- --- ATP1B1 481 broad.mit.edu 37 1 169100780 169100784 + Frame_Shift_Del DEL AAGTT AAGTT - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr1:169100780_169100784delAAGTT ENST00000367816.1 + 7 1428_1432 c.899_903delAAGTT c.(898-903)gfs p.EV300fs ATP1B1_ENST00000367815.3_Frame_Shift_Del_p.EV300fs|ATP1B1_ENST00000367813.3_Frame_Shift_Del_p.EV292fs|ATP1B1_ENST00000499679.3_Frame_Shift_Del_p.EV244fs P05026 AT1B1_HUMAN ATPase, Na+/K+ transporting, beta 1 polypeptide 300 ATP biosynthetic process|blood coagulation|leukocyte migration sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 14 all_hematologic(923;0.208) GTAAAAATTGAAGTTAAGAGCTGAT 0.371 11 97 --- --- --- --- SYT2 127833 broad.mit.edu 37 1 202568405 202568407 + In_Frame_Del DEL TCT TCT - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr1:202568405_202568407delTCT ENST00000367267.1 - 8 1184_1186 c.992_994delAGA c.(991-996)acc>a p.KT331del SYT2_ENST00000367268.4_In_Frame_Del_p.KT331del NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 331 C2 2.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) GGGTTCAGGGTCTTCTTCTTCAC 0.542 10 133 --- --- --- --- ANKAR 150709 broad.mit.edu 37 2 190541787 190541788 + Frame_Shift_Del DEL AA AA - rs141582205 byFrequency TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr2:190541787_190541788delAA ENST00000520309.1 + 2 659_660 c.571_572delAA c.(571-573)afs p.K191fs ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000313581.4_Frame_Shift_Del_p.K191fs|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.K191fs|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.K120fs|ANKAR_ENST00000461516.1_Intron NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 191 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TCAAACAAATAAAGACATTTTT 0.351 15 66 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 5 8 --- --- --- --- ARL6 84100 broad.mit.edu 37 3 97486990 97486992 + In_Frame_Del DEL GAA GAA - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr3:97486990_97486992delGAA ENST00000463745.1 + 2 516_518 c.39_41delGAA c.(37-42)ctg>ct p.LK13del ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_In_Frame_Del_p.LK13del|ARL6_ENST00000394206.1_In_Frame_Del_p.LK13del NM_001278293.1 NP_001265222.1 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 13 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding large_intestine(1)|lung(4) 5 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) TGCTTGGCCTGAAGAAGAAGGAG 0.350 10 168 --- --- --- --- TRMT10C 54931 broad.mit.edu 37 3 101283849 101283851 + In_Frame_Del DEL AAG AAG - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr3:101283849_101283851delAAG ENST00000309922.6 + 2 378_380 c.224_226delAAG c.(223-228)caa>c p.QE75del NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) TCTAGTGTGCAAGAAGAATGTGT 0.419 24 140 --- --- --- --- ALG1L2 0 broad.mit.edu 37 3 129814807 129814807 + RNA DEL G G - rs71158106 TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr3:129814807delG ENST00000507643.1 + 0 456 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CACTCCCCTCGGGGGGTGTTG 0.607 2 4 --- --- --- --- RP11-680B3.2 0 broad.mit.edu 37 3 148582959 148582960 + RNA INS - - A rs143382113 TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr3:148582959_148582960insA ENST00000488190.1 - 0 304 TCTCCAGCTGGAAAAAAAAAAC 0.436 4 6 --- --- --- --- ATP13A5 344905 broad.mit.edu 37 3 193002701 193002702 + Splice_Site DEL AC AC - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr3:193002701_193002702delAC ENST00000342358.4 - 27 3344 c.e27+1 ATP13A5_ENST00000495496.1_Splice_Site NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TTATATACTTACAGTTTGTATA 0.396 11 42 --- --- --- --- GP5 2814 broad.mit.edu 37 3 194117609 194117609 + Frame_Shift_Del DEL C C - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr3:194117609delC ENST00000401815.1 - 1 1474 c.1403delG c.(1402-1404)gtfs p.G468fs GP5_ENST00000323007.3_Frame_Shift_Del_p.G468fs P40197 GPV_HUMAN glycoprotein V (platelet) 468 LRRCT. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) CTCCGCGTCACCCCCCGGCAG 0.781 7 24 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195711343 195711344 + RNA INS - - T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr3:195711343_195711344insT ENST00000427841.1 - 0 585 NR_003264.2 AAAGACTTCTCTGTGAGCTTTG 0.381 2 4 --- --- --- --- RIOK2 55781 broad.mit.edu 37 5 96503256 96503258 + In_Frame_Del DEL CTC CTC - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr5:96503256_96503258delCTC ENST00000283109.3 - 8 1378_1380 c.1310_1312delGAG c.(1309-1314)gtc>g p.GV437del CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_In_Frame_Del_p.GV437del NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 437 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) CCAGCAGGGACTCCTCCTTGAAC 0.419 7 174 --- --- --- --- PCDHB13 0 broad.mit.edu 37 5 140595357 140595359 + In_Frame_Del DEL CAA CAA - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr5:140595357_140595359delCAA ENST00000341948.4 + 1 1849_1851 c.1662_1664delCAA c.(1660-1665)gcc>gc p.AN554del NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 554 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTGGACGCCAACGACAACTCG 0.719 19 102 --- --- --- --- GSTA3 2940 broad.mit.edu 37 6 52764820 52764822 + In_Frame_Del DEL AGA AGA - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr6:52764820_52764822delAGA ENST00000211122.3 - 5 389_391 c.324_326delTCT c.(322-327)ctg>ct p.LL108del GSTA3_ENST00000370968.1_In_Frame_Del_p.LL58del NM_000847.4 NP_000838.3 Q16772 GSTA3_HUMAN glutathione S-transferase alpha 3 108 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2) 10 Lung NSC(77;0.0912) Glutathione(DB00143) ACATAAGGGCAGAAGAAGGATCA 0.389 9 217 --- --- --- --- COL12A1 1303 broad.mit.edu 37 6 75875253 75875255 + In_Frame_Del DEL CTC CTC - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr6:75875253_75875255delCTC ENST00000322507.8 - 14 3260_3262 c.2951_2953delGAG c.(2950-2955)gaa>g p.GE984del COL12A1_ENST00000416123.2_In_Frame_Del_p.GE984del|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_In_Frame_Del_p.GE984del NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 984 Fibronectin type-III 6. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GTCAAAGGTTCTCCTTCTCCACT 0.429 34 127 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635420 96635421 + In_Frame_Ins INS - - GCC TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr7:96635420_96635421insGCC ENST00000518156.2 + 1 561_562 c.131_132insGCC c.(130-132)ccc>cGCCcc p.43_44insR DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) caacagcaacagccgccgccgc 0.698 2 4 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149473220 149473222 + RNA DEL CTT CTT - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr7:149473220_149473222delCTT ENST00000378016.2 + 0 50 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AAGGGTCCTCCTTCTGCCGCATG 0.675 9 19 --- --- --- --- EFR3A 23167 broad.mit.edu 37 8 132968029 132968031 + In_Frame_Del DEL CTT CTT - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr8:132968029_132968031delCTT ENST00000254624.5 + 7 878_880 c.653_655delCTT c.(652-657)cct>c p.PS218del EFR3A_ENST00000334503.4_In_Frame_Del_p.PS218del|EFR3A_ENST00000519656.1_In_Frame_Del_p.PS182del NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 218 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) ATAGGCCCTCCTTCTTCTCCTTC 0.355 12 147 --- --- --- --- RP11-307E17.8 0 broad.mit.edu 37 9 97097144 97097144 + RNA DEL T T - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr9:97097144delT ENST00000454869.1 + 0 513 NR_033937.1 CAAGTTATAAttttttttttt 0.498 3 5 --- --- --- --- CCDC3 83643 broad.mit.edu 37 10 12940560 12940562 + In_Frame_Del DEL CTT CTT - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr10:12940560_12940562delCTT ENST00000378839.1 - 7 1244_1246 c.292_294delAAG c.(292-294)del p.K98del CCDC3_ENST00000378825.3_In_Frame_Del_p.K223del Q9BQI4 CCDC3_HUMAN coiled-coil domain containing 3 223 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 11 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(52;0.163) ACCTCTTGACCTTCTTCACTCGC 0.631 32 185 --- --- --- --- CUBN 8029 broad.mit.edu 37 10 16989236 16989237 + Frame_Shift_Del DEL AA AA - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr10:16989236_16989237delAA ENST00000377833.4 - 36 5404_5405 c.5339_5340delTT c.(5338-5340)tfs p.F1780fs NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1780 CUB 12. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGATTTACATAAAAGACAGCTG 0.446 17 87 --- --- --- --- CCDC88B 283234 broad.mit.edu 37 11 64119066 64119068 + In_Frame_Del DEL AGG AGG - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr11:64119066_64119068delAGG ENST00000356786.5 + 18 3121_3123 c.3077_3079delAGG c.(3076-3081)cag>c p.QE1026del CCDC88B_ENST00000359902.2_In_Frame_Del_p.QE178del|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1026 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CAGCGGGCGCAGGAGCACAGCAG 0.680 3 6 --- --- --- --- KIAA1551 55196 broad.mit.edu 37 12 32136666 32136668 + In_Frame_Del DEL CTT CTT - rs149470712 TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr12:32136666_32136668delCTT ENST00000312561.4 + 4 3191_3193 c.2777_2779delCTT c.(2776-2781)cct>c p.PS926del KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 CCACAGAAACCTTCTCTACCCAA 0.374 19 67 --- --- --- --- ATF1 466 broad.mit.edu 37 12 51213443 51213445 + In_Frame_Del DEL AAG AAG - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr12:51213443_51213445delAAG ENST00000262053.3 + 7 719_721 c.697_699delAAG c.(697-699)del p.K235del ATF1_ENST00000539132.1_In_Frame_Del_p.K100del NM_005171.4 NP_005162.1 P18846 ATF1_HUMAN activating transcription factor 1 235 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway EWSR1/ATF1(347)|FUS/ATF1(4) breast(1)|large_intestine(1)|ovary(2) 4 ATGTCGCAGAAAGAAGAAAGAAT 0.305 T """EWSR1, FUS""" """malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """ 8 101 --- --- --- --- PSME1 5720 broad.mit.edu 37 14 24606348 24606351 + Splice_Site DEL ACAG ACAG - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr14:24606348_24606351delACAG ENST00000382708.3 + 3 135 c.e3-1 PSME1_ENST00000206451.6_Splice_Site|PSME1_ENST00000470718.1_Splice_Site|PSME1_ENST00000561435.1_Splice_Site|PSME1_ENST00000559123.1_Splice_Site NM_176783.1 NP_788955.1 Q06323 PSME1_HUMAN proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|proteasome activator complex endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(265;0.00831) CACCTCACACACAGACAGAGAACC 0.574 11 259 --- --- --- --- YLPM1 56252 broad.mit.edu 37 14 75265962 75265963 + Frame_Shift_Del DEL CA CA - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr14:75265962_75265963delCA ENST00000325680.7 + 5 4086_4087 c.3962_3963delCA c.(3961-3963)tfs p.S1321fs YLPM1_ENST00000238571.3_Frame_Shift_Del_p.S1126fs|YLPM1_ENST00000552421.1_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GAACAAGAATCACAGTTTCGTG 0.446 8 76 --- --- --- --- RTF1 23168 broad.mit.edu 37 15 41749919 41749920 + Frame_Shift_Del DEL AG AG - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr15:41749919_41749920delAG ENST00000389629.4 + 4 519_520 c.507_508delAG c.(505-510)tcacfs p.SD169fs NM_015138.4 NP_055953.3 Q92541 RTF1_HUMAN Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 169 Ser-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) GTTCAGATTCAGACTCTTCCTC 0.485 54 157 --- --- --- --- TPM1 7168 broad.mit.edu 37 15 63335041 63335043 + In_Frame_Del DEL AAG AAG - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr15:63335041_63335043delAAG ENST00000357980.4 + 1 92_94 c.13_15delAAG c.(13-15)del p.K7del TPM1_ENST00000288398.6_In_Frame_Del_p.K7del|TPM1_ENST00000267996.7_In_Frame_Del_p.K7del|TPM1_ENST00000559556.1_In_Frame_Del_p.K7del|TPM1_ENST00000559397.1_In_Frame_Del_p.K7del|TPM1_ENST00000560445.1_In_Frame_Del_p.K7del|TPM1_ENST00000403994.3_In_Frame_Del_p.K7del|TPM1_ENST00000358278.3_In_Frame_Del_p.K7del P09493 TPM1_HUMAN tropomyosin 1 (alpha) 7 cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber actin binding|structural constituent of cytoskeleton|structural constituent of muscle endometrium(1)|large_intestine(1)|lung(2) 4 GGACGCCATCAAGAAGAAGATGC 0.690 7 35 --- --- --- --- ADCY9 115 broad.mit.edu 37 16 4164385 4164387 + In_Frame_Del DEL CTC CTC - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr16:4164385_4164387delCTC ENST00000294016.3 - 2 1595_1597 c.1057_1059delGAG c.(1057-1059)del p.E353del NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 353 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 AATTCTCACTCTCCTCATCTCCC 0.478 44 128 --- --- --- --- TXNDC11 51061 broad.mit.edu 37 16 11773509 11773512 + Frame_Shift_Del DEL TCTC TCTC - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr16:11773509_11773512delTCTC ENST00000356957.3 - 13 2604_2607 c.2497_2500delGAGA c.(2497-2502)tcfs p.EI833fs TXNDC11_ENST00000283033.5_Frame_Shift_Del_p.EI806fs|TXNDC11_ENST00000570917.1_5'UTR Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 833 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 AGTTTCTGGATCTCTCTCTCCAAG 0.588 16 77 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578275 7578277 + In_Frame_Del DEL GAG GAG - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr17:7578275_7578277delGAG ENST00000420246.2 - 6 704_706 c.572_574delCTC c.(571-576)cag>c p.PQ191del TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.PQ191del|TP53_ENST00000455263.2_In_Frame_Del_p.PQ191del|TP53_ENST00000445888.2_In_Frame_Del_p.PQ191del|TP53_ENST00000269305.4_In_Frame_Del_p.PQ191del|TP53_ENST00000413465.2_In_Frame_Del_p.PQ191del NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 191 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATAAGATGCTGAGGAGGGGCCAG 0.557 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 60 --- --- --- --- CTD-2532D12.4 0 broad.mit.edu 37 17 71739904 71739904 + RNA DEL T T - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr17:71739904delT ENST00000583854.1 + 0 166 ctttccctcctccccttcctc 0.532 2 4 --- --- --- --- CEP192 55125 broad.mit.edu 37 18 13095576 13095578 + In_Frame_Del DEL CTC CTC - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr18:13095576_13095578delCTC ENST00000506447.1 + 35 6409_6411 c.6329_6331delCTC c.(6328-6333)tct>t p.SP2110del CEP192_ENST00000325971.8_In_Frame_Del_p.SP1514del|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_In_Frame_Del_p.SP1635del NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1705 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CCTCAGGGTTCTCCTCTTCTCTC 0.512 36 182 --- --- --- --- AP3D1 8943 broad.mit.edu 37 19 2111786 2111788 + In_Frame_Del DEL CTT CTT - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr19:2111786_2111788delCTT ENST00000355272.6 - 25 3033_3035 c.2827_2829delAAG c.(2827-2829)del p.K943del AP3D1_ENST00000356926.4_In_Frame_Del_p.K840del|AP3D1_ENST00000350812.6_In_Frame_Del_p.K712del|AP3D1_ENST00000345016.5_In_Frame_Del_p.K881del NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 883 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) tccgctcctccttctccttcctg 0.616 12 24 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20262850 20262850 + RNA DEL T T - rs142097873 TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr19:20262850delT ENST00000593655.1 - 0 337 CTC-260E6.6_ENST00000586657.1_RNA TTCttttttcttttttttttt 0.468 2 4 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20635101 20635102 + RNA INS - - T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr19:20635101_20635102insT ENST00000598131.1 + 0 256 ACAGGTAGGTGTTTTTTTTGCT 0.416 4 9 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42796461 42796462 + Frame_Shift_Del DEL TG TG - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr19:42796461_42796462delTG ENST00000572681.2 + 14 5813_5814 c.5745_5746delTG c.(5743-5748)tatgfs p.YV1915fs CIC_ENST00000575354.2_Frame_Shift_Del_p.YV1006fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.YV1006fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 1006 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.V1007fs*28(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GAATCACCTATGTGCAGTCAGC 0.649 """Mis, F, S""" oligodendroglioma 36 48 --- --- --- --- ZNF468 90333 broad.mit.edu 37 19 53345269 53345272 + Frame_Shift_Del DEL TCTT TCTT - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr19:53345269_53345272delTCTT ENST00000595646.1 - 4 395_398 c.275_278delAAGA c.(274-279)acfs p.KD92fs ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Frame_Shift_Del_p.KD39fs|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Frame_Shift_Del_p.KD39fs Q5VIY5 ZN468_HUMAN zinc finger protein 468 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) GCCATGAATGTCTTTCTCAATTTC 0.436 19 173 --- --- --- --- NCOA5 57727 broad.mit.edu 37 20 44691371 44691373 + In_Frame_Del DEL GAG GAG - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr20:44691371_44691373delGAG ENST00000290231.6 - 8 1470_1472 c.1306_1308delCTC c.(1306-1308)del p.L436del NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TGAAGAGGCTGAGGATTTTGGCC 0.586 9 202 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 3 5 --- --- --- --- MKL1 57591 broad.mit.edu 37 22 40807847 40807848 + Frame_Shift_Del DEL TG TG - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chr22:40807847_40807848delTG ENST00000396617.3 - 15 2942_2943 c.2352_2353delCA c.(2350-2355)gagtfs p.DS784fs MKL1_ENST00000355630.3_Frame_Shift_Del_p.T781fs|MKL1_ENST00000402042.1_Frame_Shift_Del_p.T731fs|MKL1_ENST00000407029.1_Frame_Shift_Del_p.T781fs Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 0 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 ACCCACAGACTGTCTTCGGGGA 0.589 T RBM15 acute megakaryocytic leukemia 10 292 --- --- --- --- LAMP2 0 broad.mit.edu 37 X 119580172 119580173 + Frame_Shift_Del DEL AA AA - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chrX:119580172_119580173delAA ENST00000371335.4 - 6 987_988 c.851_852delTT c.(850-852)tfs p.F284fs LAMP2_ENST00000434600.2_Frame_Shift_Del_p.F284fs|LAMP2_ENST00000200639.4_Frame_Shift_Del_p.F284fs|LAMP2_ENST00000538785.1_Frame_Shift_Del_p.F173fs|LAMP2_ENST00000540603.1_Frame_Shift_Del_p.F237fs NM_013995.2 NP_054701.1 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 284 Second lumenal domain. platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2) 15 CAGCAAAGACAAAGTCTAGATA 0.411 19 103 --- --- --- --- ACTRT1 139741 broad.mit.edu 37 X 127185177 127185180 + Frame_Shift_Del DEL ATCT ATCT - TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fee64e-4ac6-4be2-843b-3c7276b0e851 fa940bbf-110e-4dae-a44b-d6ddabf2c0d8 g.chrX:127185177_127185180delATCT ENST00000371124.3 - 1 1202_1205 c.1006_1009delAGAT c.(1006-1011)gcfs p.RC336fs NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 336 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 GCAGAGAAGCATCTATCAGGAGAA 0.520 27 44 --- --- --- ---